U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Reduced erythrocyte inosine triphosphatase activity

MedGen UID:
1052363
•Concept ID:
CN377342
•
Finding
HPO: HP:6000511

Definition

Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte inosine triphosphatase activity

Conditions with this feature

Inosine triphosphatase deficiency
MedGen UID:
452450
•Concept ID:
C0342800
•
Disease or Syndrome
Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002).
See: Condition Record
Inosine triphosphatase deficiency

Professional guidelines

PubMed

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

Recent clinical studies

Etiology

Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients.
Xiong H, Xin HW, Wu XC, Li Q, Xiong L, Yu AR
Fundam Clin Pharmacol 2010 Jun;24(3):393-400. Epub 2009 Aug 13 doi: 10.1111/j.1472-8206.2009.00770.x. PMID: 19682085

Therapy

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients.
Xiong H, Xin HW, Wu XC, Li Q, Xiong L, Yu AR
Fundam Clin Pharmacol 2010 Jun;24(3):393-400. Epub 2009 Aug 13 doi: 10.1111/j.1472-8206.2009.00770.x. PMID: 19682085
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

Clinical prediction guides

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...